1446例自然人群ApoE基因多态性与血清ApoE水平相关性研究  

The Association Between Apolipoprotein E Gene Polymorphism and Serum Apolipoprotein E Level in 1446 Cases from Natural Population

作　　者：李秀锋[1] 刘雪凯[1] 冯璟[1] 梁国威[1] LI Xiufeng;LIU Xuekai;FENG Jing;LIANG Guowei(Aerospace Center Hospital,Beijing 100049,China)

机构地区：[1]航天中心医院检验科,北京100049

出　　处：《标记免疫分析与临床》2022年第6期904-908,共5页Labeled Immunoassays and Clinical Medicine

基　　金：航天中心医院科研基金项目(编号:YN201914)。

摘　　要：目的探讨自然人群ApoE基因多态性与血清ApoE水平的相关性。方法纳入2018年12月至2019年12月航天中心医院体检人群1446例(男830例,女616例),收集上述人群基础资料及临床检测指标。ApoE基因型采用荧光定量PCR法检测全血基因组DNA,血清ApoE水平采用免疫比浊法进行检测。结果1446例研究对象中共检出6种ApoE等位基因型,其中ε3/ε3为987例,ε2/ε2、ε2/ε3和ε2/ε4分别为16例、189例和27例,ε3/ε4和ε4/ε4为209例和18例。与ε3/ε3组的血清ApoE水平(4.52±1.27mg/dL)比较,ε2/ε2、ε2/ε3和ε2/ε4组的血清ApoE水平显著升高(7.36±2.05mg/dL、5.29±1.52mg/dL和5.28±1.30mg/dL,P<0.001),ε4/ε4组的血清ApoE水平则显著降低(4.20±1.74mg/dL,P<0.001),而ε3/ε4组血清ApoE水平(4.72±2.15mg/dL,P>0.05)与ε3/ε3组差异无统计学意义。采用多元线性回归分析,控制各种与血清ApoE水平相关的指标后,ApoE基因多态性与血清ApoE水平具有独立相关性,其中ε2位点与血清ApoE水平呈独立正相关性,ε4位点与血清ApoE水平呈独立负相关性(P<0.05)。结论ApoE基因是血清ApoE水平的独立影响因素,ε2/ε2和ε2/ε3基因型可显著升高血清ApoE水平,ε4/ε4基因型则显著降低血清ApoE水平;ε2与ε4共同杂合变异型表现为血清ApoE水平显著升高,ε3/ε4基因型对血清ApoE水平影响较小。Objective To investigate the association between ApoE gene polymorphism and serum ApoE level in natural population.Methods A total of 1446 patients(830 males and 616 females)from the physical examination population of the Aerospace Center Hospital from December,2018 to December,2019 were enrolled for the study.The basic data and clinical test indicators of the study population were collected.ApoE genotype was detected by fluorescence quantitative PCR method for whole blood genomic DNA,and serum ApoE level was detected by immunoturbidimetric method.Results A total of 6 ApoE alleles were detected in 1446 subjects,of whichε3/ε3 were 987 cases,ε2/ε2,ε2/ε3 andε2/ε4 were 16 cases,189 cases and 27 cases,respectively,as well asε3/ε4 andε4/ε4 were 209 cases and 18 cases,respectively.Compared with serum ApoE level of theε3/ε3 group(4.52±1.27mg/dL),serum ApoE level ofε2/ε2,ε2/ε3 andε2/ε4 were significantly increased(7.36±2.05mg/dL,5.29±1.52mg/dL and 5.28±1.30mg/dL,P<0.001),while serum ApoE level ofε4/ε4 was significantly reduced(4.20±1.74mg/dL,P<0.001),and serum ApoE level of theε3/ε4 group(4.72±2.15mg/dL,P>0.05)andε3/ε3 group were not significantly different.The results of the trend test showed that in the order ofε2/ε2,ε2/ε3,ε2/ε4,ε3/ε3,ε3/ε4 andε4/ε4,serum ApoE level showed a decreasing trend(P<0.001).Using multiple linear regression analysis by controlling various indicators related to serum ApoE levels,ApoE gene polymorphisms were independently correlated with serum ApoE levels,andε2 gene site was independently positively correlated with the increase of serum ApoE level,while there was an independent negative correlation between theε4 gene site and serum ApoE level(P<0.05).Conclusion ApoE gene is an independent influencing factor of serum ApoE level.ε2/ε2 andε2/ε3 genotypes can significantly increase serum ApoE levels,whileε4/ε4 genotype can significantly reduce serum ApoE levels.The heterozygous mutation ofε2 andε4 shows a significant increase in serum ApoE levels

关 键 词：载脂蛋白E 基因型 血清载脂蛋白E 

分 类 号：R446.1[医药卫生—诊断学]